"Ambry Genetics"[submitter] AND "NUBP1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2607946	NM_002484.4(NUBP1):c.10G>T (p.Val4Leu)	NUBP1 (V4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202695	NM_002484.4(NUBP1):c.38G>C (p.Ser13Thr)	NUBP1 (S13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520275	NM_002484.4(NUBP1):c.80A>G (p.Asn27Ser)	NUBP1 (N27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202701	NM_002484.4(NUBP1):c.94G>C (p.Ala32Pro)	NUBP1 (A32P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549749	NM_002484.4(NUBP1):c.107G>C (p.Gly36Ala)	NUBP1 (G36A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202692	NM_002484.4(NUBP1):c.154A>C (p.Thr52Pro)	NUBP1 (T3P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619934	NM_002484.4(NUBP1):c.164A>G (p.His55Arg)	NUBP1 (H55R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202693	NM_002484.4(NUBP1):c.213C>A (p.Phe71Leu)	NUBP1 (F71L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378723	NM_002484.4(NUBP1):c.230A>G (p.His77Arg)	NUBP1 (H28R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202694	NM_002484.4(NUBP1):c.274A>G (p.Ile92Val)	NUBP1 (I92V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404216	NM_002484.4(NUBP1):c.287G>A (p.Gly96Glu)	NUBP1 (G96E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607632	NM_002484.4(NUBP1):c.296T>G (p.Ile99Ser)	NUBP1 (I99S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271070	NM_002484.4(NUBP1):c.311G>A (p.Gly104Glu)	NUBP1 (G55E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202696	NM_002484.4(NUBP1):c.436G>A (p.Gly146Arg)	NUBP1 (G146R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299187	NM_002484.4(NUBP1):c.446A>G (p.Lys149Arg)	NUBP1 (K138R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406434	NM_002484.4(NUBP1):c.490G>A (p.Glu164Lys)	NUBP1, TVP23A (E153K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202697	NM_002484.4(NUBP1):c.545C>T (p.Ser182Leu)	NUBP1, TVP23A (S171L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202698	NM_002484.4(NUBP1):c.575T>C (p.Ile192Thr)	NUBP1, TVP23A (I143T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539256	NM_002484.4(NUBP1):c.591C>G (p.Ile197Met)	NUBP1, TVP23A (I186M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279267	NM_002484.4(NUBP1):c.690G>C (p.Met230Ile)	NUBP1, TVP23A (M207I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494585	NM_002484.4(NUBP1):c.691A>C (p.Ser231Arg)	NUBP1, TVP23A (S220R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557276	NM_002484.4(NUBP1):c.733T>A (p.Phe245Ile)	NUBP1, TVP23A (F234I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308508	NM_002484.4(NUBP1):c.752G>A (p.Gly251Asp)	NUBP1, TVP23A (G202D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397099	NM_002484.4(NUBP1):c.754G>A (p.Ala252Thr)	NUBP1, TVP23A (A252T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202700	NM_002484.4(NUBP1):c.772G>C (p.Asp258His)	NUBP1, TVP23A (D209H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619993	NM_002484.4(NUBP1):c.781G>A (p.Val261Ile)	NUBP1, TVP23A (V261I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2316359	NM_002484.4(NUBP1):c.809A>G (p.Asp270Gly)	NUBP1, TVP23A (D247G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348455	NM_002484.4(NUBP1):c.854T>G (p.Ile285Ser)	NUBP1, TVP23A (I274S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322477	NM_002484.4(NUBP1):c.854T>C (p.Ile285Thr)	NUBP1, TVP23A (I285T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2530438	NM_002484.4(NUBP1):c.914A>G (p.Glu305Gly)	NUBP1, TVP23A (E277G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 30